chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (DOID:0112106)
Alliance: disease page
Synonyms: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Alt IDs: OMIM:300863, ORDO:163966
Definition: A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23.